D41H (p.Asp41His) variant of PMS1 (PMS1 protein homolog 1)
D41H (p.Asp41His) in PMS1 (PMS1 protein homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D41H (p.Asp41His) variant details
- p.Asp41His
- ExAC rs757048301
- gnomAD rs757048301
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.71
- CADD 30.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- PMS1 High mobility group box domain domainome 1.0: score -0.59